Annotation Detail
Information
- Associated Genes
- CLPB
- Associated Variants
-
CLPB MUTATION
CLPB MUTATION - Associated Disease
- severe congenital neutropenia
- Source Database
- DisGeNET
- Description
- Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]).
- Pubmed
- 25597510
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs